Phenotypes for disease #03002 (PSATD (deficiency, phosphoserine aminotransferase (PSATD)), OMIM:610992)

2 entries on 1 page. Showing entries 1 - 2.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000227531 HP:0001511, HP:0000340, HP:0000470, HP:0000377, HP:0000369, HP:0000153, HP:0000232, HP:0009099, HP:0000278, HP:0000537, HP:0002057, HP:0000520, HP:0007651, HP:0000518, HP:0000252, HP:0002079, HP:0001371, HP:0001838, HP:0001188 - - Familial, autosomal recessive - - - - p.(Ser43Arg) Fatima Abdelfattah 00300229
0000227532 HP:0001511, HP:0000340, HP:0000470, HP:0000377, HP:0000175, HP:0000347, HP:0000537, HP:0000520, HP:0000518, HP:0000252, HP:0001371, HP:0001188 - - Familial, autosomal recessive - - - - - Fatima Abdelfattah 00300230
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